E78.0

Approximate Synonyms

• Familial hypercholesterolemia

• Familial hypercholesterolemia – homozygous

• High cholesterol

• Hyperbetalipoproteinemia

• Hypercholesterolemia

• Hypercholesterolemia, familial

• Hypercholesterolemia, familial, homozygous

Clinical Information

• A group of familial disorders characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins pre-beta lipoproteins).

• Characterized by increased plasma concentration of cholesterol carried in low density lipoproteins ldl) and by a deficiency in a cell surface receptor which regulates ldl degradation and cholesterol synthesis.

• Hypercholesterolemia that is caused by mutation in the low density lipoprotein receptor gene. This receptor defect prevents ldl binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis.

Details

• E78.0 should not be used for reimbursement purposes as there are multiple codes below it that contain a greater level of detail.

• The 2023 edition of ICD-10-CM E78.0 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E78.0 – other international versions of ICD-10 E78.0 may differ.